Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.10638956_10645576del | CA913191041 | MYH3 | c.1141+131_3256del | ClinVar |
17 | g.10639079C>A | CA398154208 | MYH3 | c.3213G>T (p.Glu1071Asp) | |
17 | g.10639079C>G | CA398154214 | MYH3 | c.3213G>C (p.Glu1071Asp) | |
17 | g.10639079C>T | CA497978552 | MYH3 | c.3213G>A (p.Glu1071=) | |
17 | g.10639080T>A | CA398154215 | MYH3 | c.3212A>T (p.Glu1071Val) | |
17 | g.10639080T>C | CA398154216 | MYH3 | c.3212A>G (p.Glu1071Gly) | |
17 | g.10639080T>G | CA398154218 | MYH3 | c.3212A>C (p.Glu1071Ala) | |
17 | g.10639081C>A | CA398154221 | MYH3 | c.3211G>T (p.Glu1071Ter) | |
17 | g.10639081C= | CA2247332478 | MYH3 | c.3211G= (p.Glu1071=) | |
17 | g.10639081C>G | CA8392589 | MYH3 | c.3211G>C (p.Glu1071Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.10639081C>T | CA398154224 | MYH3 | c.3211G>A (p.Glu1071Lys) | |
17 | g.10639082C>A | CA497978555 | MYH3 | c.3210G>T (p.Leu1070=) | |
17 | g.10639082C>G | CA497978554 | MYH3 | c.3210G>C (p.Leu1070=) | |
17 | g.10639082C>T | CA497978553 | MYH3 | c.3210G>A (p.Leu1070=) | gnomAD v4 |
17 | g.10639083A>C | CA398154232 | MYH3 | c.3209T>G (p.Leu1070Arg) | |
17 | g.10639083A>G | CA398154236 | MYH3 | c.3209T>C (p.Leu1070Pro) | |
17 | g.10639083A>T | CA398154239 | MYH3 | c.3209T>A (p.Leu1070Gln) | |
17 | g.10639084G>A | CA497978556 | MYH3 | c.3208C>T (p.Leu1070=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.10639084G>C | CA398154242 | MYH3 | c.3208C>G (p.Leu1070Val) | |
17 | g.10639084G= | CA2247332482 | MYH3 | c.3208C= (p.Leu1070=) | |
17 | g.10639084G>T | CA398154244 | MYH3 | c.3208C>A (p.Leu1070Met) | ClinVar |
17 | g.10639085A>C | CA398154249 | MYH3 | c.3207T>G (p.Asp1069Glu) | |
17 | g.10639085A>G | CA497978557 | MYH3 | c.3207T>C (p.Asp1069=) | |
17 | g.10639085A>T | CA398154251 | MYH3 | c.3207T>A (p.Asp1069Glu) | gnomAD v4 |
17 | g.10639086T>A | CA398154254 | MYH3 | c.3206A>T (p.Asp1069Val) | |
17 | g.10639086T>C | CA398154255 | MYH3 | c.3206A>G (p.Asp1069Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.10639086T>G | CA398154257 | MYH3 | c.3206A>C (p.Asp1069Ala) | |
17 | g.10639086T= | CA2247332485 | MYH3 | c.3206A= (p.Asp1069=) | |
17 | g.10639087C>A | CA398154260 | MYH3 | c.3205G>T (p.Asp1069Tyr) | |
17 | g.10639087C>G | CA398154262 | MYH3 | c.3205G>C (p.Asp1069His) | |
17 | g.10639087C>T | CA398154265 | MYH3 | c.3205G>A (p.Asp1069Asn) | |
17 | g.10639088T>A | CA398154268 | MYH3 | c.3204A>T (p.Leu1068Phe) | |
17 | g.10639088T>C | CA497978558 | MYH3 | c.3204A>G (p.Leu1068=) | |
17 | g.10639088T>G | CA398154267 | MYH3 | c.3204A>C (p.Leu1068Phe) | |
17 | g.10639089A>C | CA398154273 | MYH3 | c.3203T>G (p.Leu1068Ter) | |
17 | g.10639089A>G | CA398154276 | MYH3 | c.3203T>C (p.Leu1068Ser) | |
17 | g.10639089A>T | CA398154278 | MYH3 | c.3203T>A (p.Leu1068Ter) | |
17 | g.10639090A>C | CA398154283 | MYH3 | c.3202T>G (p.Leu1068Val) | |
17 | g.10639090A>G | CA497978559 | MYH3 | c.3202T>C (p.Leu1068=) | |
17 | g.10639090A>T | CA398154284 | MYH3 | c.3202T>A (p.Leu1068Ile) | |
17 | g.10639091T>A | CA497978560 | MYH3 | c.3201A>T (p.Ile1067=) | |
17 | g.10639091T>C | CA287784386 | MYH3 | c.3201A>G (p.Ile1067Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.10639091T>G | CA497978561 | MYH3 | c.3201A>C (p.Ile1067=) | |
17 | g.10639091T= | CA2247332490 | MYH3 | c.3201A= (p.Ile1067=) | |
17 | g.10639092A>C | CA398154288 | MYH3 | c.3200T>G (p.Ile1067Arg) | |
17 | g.10639092A>G | CA398154292 | MYH3 | c.3200T>C (p.Ile1067Thr) | gnomAD v4 |
17 | g.10639092A>T | CA398154293 | MYH3 | c.3200T>A (p.Ile1067Lys) | |
17 | g.10639093T>A | CA8392590 | MYH3 | c.3199A>T (p.Ile1067Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.10639093T>C | CA398154300 | MYH3 | c.3199A>G (p.Ile1067Val) | ClinVar dbSNP gnomAD v4 |
17 | g.10639093T>G | CA398154303 | MYH3 | c.3199A>C (p.Ile1067Leu) |